Trouble using our website?
Contact us
You’ll find on this page scientific publications from ERN-EYE members from 2019.
As a reminder, publications should be PubMed accredited scientific journals and involve as major contributors Health Care Providers from at least two different Member States within ERN-EYE, and which include an explicit acknowledgement of ERN-EYE such as “This work is generated/supported within the European Reference Network for Rare Eye Diseases ERN-EYE”.
In this study the authors propose a new solution for distinguish healthy cases and those with optic disc drusen (ODD) utilizing Residual Attention...
Professional(s) : Katarzyna Nowomiejska, Reda ZEMAITIENE, Robert REJDAK
Center(s) : Medical University of Lublin, Lublin, Poland ; Hospital of Lithuanian University of Health Sciences, Kauno Klinikos, Kaunas, Lithuania
Young people could be spared from going blind by a new genetic risk tool that could also help diagnose multiple sclerosis (MS) earlier, to start...
Professional(s) : Axel PETZOLD
Center(s) : Leiden University Medical Center/Academic Medical Center Amsterdam, Netherlands
We aim to report the ocular phenotype and molecular genetic findings in two Czech families with Sorsby fundus dystrophy and to review all the...
Professional(s) : Petra Liskova, Bohdan Kousal
Center(s) : Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic
In EYS-related disease, the RP-SSS showed advanced severity at a relative early age and was correlated with the central area of the...
Professional(s) : Benedetto Falsini
Center(s) : Fondazione Policlinico Universitario A. Gemelli - Roma, Italy
Working group(s) : Retinal Rare Eye Diseases (WG1)
The results provide a foundation to guide the development of pharmacological myopia...
Professional(s) : Christina Zeitz, Isabelle Audo, José-Alain Sahel
Center(s) : RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France
FAF may serve as a convenient monitoring tool and suitable end point for interventional clinical trials that aim to slow disease...
Professional(s) : Rupert STRAUSS, Isabelle Audo
Center(s) : Department of ophthalmology, Kepler University Clinic Linz, Linz, Austria ; RÉFÉRET National Hospital of Ophthalmology of Quinze-Vingts, Paris, France
Working group(s) : Retinal Rare Eye Diseases (WG1)
We report a new noncoding mutation at the same locus (chr6:99593030G>C) involving the same DNase I site regulating the retinal transcription...
Professional(s) : Elfride DE BAERE
Center(s) : Ghent University Hospital, Ghent, Belgium
Working group(s) : Genetic Diagnostics (TWG6)
Professional(s) : Elfride DE BAERE
Center(s) : Ghent University Hospital, Ghent, Belgium
Working group(s) : Genetic Diagnostics (TWG6)
Our data indicate that treatment with (oral) CAI may be beneficial for short-term management of CFC in patients with...
Professional(s) : Ingeborgh VAN DEN BORN, Alberta Thiadens, Carel HOYNG, Bart LEROY
Center(s) : The Rotterdam Eye Hospital, Rotterdam, Netherlands ; Erasmus MC: University Medical Center Rotterdam, Netherlands ; Radboud university medical center, Nijmegen, Netherlands ; Ghent University Hospital, Ghent, Belgium
Working group(s) : Retinal Rare Eye Diseases (WG1)
Patients with missense alterations had better BCVA and greater structural integrity. This is important for patient prognostication and...
Professional(s) : Fadi Nasser, Alberta Thiadens, Susanne KOHL, Camiel BOON, Eberhart Zrenner
Center(s) : Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany ; Erasmus MC: University Medical Center Rotterdam, Netherlands ; Leiden University Medical Center/Academic Medical Center Amsterdam, Netherlands
Working group(s) : Genetic Diagnostics (TWG6) , Retinal Rare Eye Diseases (WG1)
